Personal profile
External positions
Technical Assessor - Bioinformatica audits - ISO-15189 - Raad voor Accreditatie
1 Nov 2020 → 31 Dec 3999
Collaborations and top research areas from the last five years
Recent external collaboration on country/territory level. Dive into details by clicking on the dots or
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Comprehensive analysis across SMN2 excludes DNA methylation as an epigenetic biomarker for spinal muscular atrophy
Zwartkruis, M. M., Kortooms, J. V., Gommers, D., Elferink, M. G., Signoria, I., van der Sel, J., Hop, P. J., Zwamborn, R. A. J., Geene, R., Green, J. W., van Deutekom, H. W. M., van Rheenen, W., Veldink, J. H., Asselman, F. L., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 16 May 2025, In: iScience. 28, 5, 112461.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile14 Downloads (Pure) -
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy
Zwartkruis, M. M., Elferink, M. G., Gommers, D., Signoria, I., Blasco-Pérez, L., Costa-Roger, M., van der Sel, J., Renkens, I. J., Green, J. W., Kortooms, J. V., Vermeulen, C., Straver, R., van Deutekom, H. W. M., Veldink, J. H., Asselman, F., Tizzano, E. F., Wadman, R. I., van der Pol, W. L., van Haaften, G. W. & Groen, E. J. N., 21 Mar 2025, In: Genome Medicine. 17, 1, 26.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile26 Downloads (Pure) -
Prevalence of germline pathogenic variants in 779 patients with metastatic prostate cancer
Vlaming, M., Koole, W., van Moorselaar, R. J. A., Bleiker, E. M. A., van de Geer, E., van Deutekom, H. W. M., Ligtenberg, M. J. L., van Engelen, K., Kets, C. M., van der Kolk, L. E., Schijven, G., Mehra, N., Noordzij, M. A., Meijer, R. P., van Oort, I. M., Kiemeney, L. A. L. M. & Ausems, M. G. E. M., Dec 2025, In: BJU International. 136, 6, p. 1137-1144 8 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile2 Downloads (Pure) -
Recombinant Interleukin-1 Receptor antagonist is an effective first-line treatment strategy in new-onset systemic Juvenile Idiopathic Arthritis, irrespective of HLA-DRB1 background and IL1RN variants
Erkens, R. G. A., Calis, J. J. A., Verwoerd, A., De Roock, S., Ter Haar, N. M., Den Engelsman, G., Van der Veken, L. T., Ernst, R. F., Van Deutekom, H. W. M., Pickering, A., Scholman, R. C., Jansen, M. H. A., Swart, J. F., Sinha, R., Roth, J., Schulert, G. S., Grom, A. A., Van Loosdregt, J. & Vastert, S. J., Jan 2024, In: Arthritis & Rheumatology. 76, 1, p. 119-129 11 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile10 Downloads (Pure) -
The Importance of Copy Number Variant Analysis in Patients with Monogenic Kidney Disease
Claus, L. R., Ernst, R. F., Elferink, M. G., van Deutekom, H. W. M., van der Zwaag, B. & van Eerde, A. M., Sept 2024, In: Kidney International Reports. 9, 9, p. 2695-2704 10 p.Research output: Contribution to journal › Article › Academic › peer-review
Open AccessFile6 Downloads (Pure)